Description:
HUMAN VARIATION PANEL - INDO PAKISTANI
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Human Variation |
| Alternate IDs |
GM01032 [HUMAN VARIATION PANEL - INDO PAKISTANI] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
| Marini NJ, Gin J, Ziegle J, Keho KH, Ginzinger D, Gilbert DA, Rine J, The prevalence of folate-remedial MTHFR enzyme variants in humans Proceedings of the National Academy of Sciences of the United States of America: 2008 |
| PubMed ID: 18523009 |
| |
| Gonzalez-Covarrubias V, Ghosh D, Lakhman SS, Pendyala L, Blanco JG, A functional genetic polymorphism on human carbonyl reductase 1 (CBR1 V88I) impacts on catalytic activity and NADPH binding affinity Drug metabolism and disposition: the biological fate of chemicals35:973-80 2007 |
| PubMed ID: 17344335 |
| |
| Evans PD, Mekel-Bobrov N, Vallender EJ, Hudson RR, Lahn BT, Evidence that the adaptive allele of the brain size gene microcephalin introgressed into Homo sapiens from an archaic Homo lineage PROC NATL ACAD SCI USA103(48):18178-83 2006 |
| PubMed ID: 17090677 |
| |
| Anderle P, Nielsen CU, Pinsonneault J, Krog PL, Brodin B, Sadée W, Genetic variants of the human dipeptide transporter PEPT1 The Journal of pharmacology and experimental therapeutics316:636-46 2005 |
| PubMed ID: 16258023 |
| |
| Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, Tishkoff SA, Hudson RR, Lahn BT, Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science309(5741):1717-20 2005 |
| PubMed ID: 16151009 |
| |
| Mekel-Bobrov N, Gilbert SL, Evans PD, Vallender EJ, Anderson JR, Hudson RR, Tishkoff SA, Lahn BT, Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science309(5741):1720-2 2005 |
| PubMed ID: 16151010 |
|
|